| Summary: | <p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is an unusual autosomal dominant disorder characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps. Patients with PJS are at an increased risk of developing multi-organ cancer, most frequently those involving the gastrointestinal tract. Germline mutation of the <it>STK11 </it>gene, which encodes a serine-threonine kinase, is responsible for PJS.</p> <p>Methods</p> <p>Using DNA samples obtained from the patient and his family members, we sequenced nine exons and flanking intron regions of the <it>STK11 </it>gene using polymerase chain reaction (PCR) and direct sequencing.</p> <p>Results</p> <p>Sequencing of the <it>STK11 </it>gene in the proband of the family revealed a novel 1-base pair deletion of guanine (G) in exon 6 (c.826delG; Gly276AlafsX11). This mutation resulted in a premature termination at codon 286, predicting a partial loss of the kinase domain and complete loss of the C-terminal domain. We did not observe this mutation in both parents of the PJS patient. Therefore, it is considered a novel <it>de novo </it>mutation.</p> <p>Conclusion</p> <p>The results presented herein enlarge the spectrum of mutations of the <it>STK11 </it>gene by identifying a novel <it>de novo </it>mutation in a PJS patient and further support the hypothesis that <it>STK11 </it>mutations are disease-causing mutations for PJS with or without a positive family history.</p>
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